Results 191 to 200 of about 112,908 (344)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

A Novel Percutaneous Surgical Approach Using Silicone Sheets for Lower Eyelid Lengthening: A Descriptive Case Series. [PDF]

Plast Reconstr Surg Glob Open
Kinoshita S, Kakudo N, Ukyo H, Masuda N, Osawa S.   +4 more
europepmc   +1 more source

Three Cases showing Retraction of the Eyelids

, 1923
James Collier, Jeremy P. Martin
openalex   +1 more source

Gaze-evoked eyelid and ocular nystagmus inhibited by the near reflex: unusual ocular motor phenomena in a lateral medullary syndrome. [PDF]

, 1968
R. B. Daroff, William F. Hoyt, M. D. Sanders, Louis R. Nelson   +3 more
openalex   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Cooperative Photometallobiocatalysis: Nonheme Fe Enzyme‐Catalyzed Enantioconvergent Radical Decarboxylative Azidation, Thiocyanation, and Isocyanation of Redox‐Active Esters

Angewandte Chemie, EarlyView.
Through the directed evolution of an underexploited nonheme Fe extradiol dioxygenase, we developed a unified cooperative photobiocatalytic strategy to allow for three types of enantioconvergent radical transformations, including azidation, thiocyanation, and isocyanation.
Liu‐Peng Zhao, Ken Lin, Pei‐Pei Xie, Huichong Liu, Hengye Xiang, Xin Liu, Yunlong Zhao, Peng Liu, Yang Yang   +8 more
wiley   +2 more sources

Investigating orbital foreign device-associated malignancies: a scoping review. [PDF]

BMC Cancer
Ha JH, Arora JS, Sayadi JJ, Khattab NR, Francis SD, Johnstone TM, Jang Y, Lee GK.   +7 more
europepmc   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan, Vidit Talati, Jagatkumar A. Patel, Theodore V. Nguyen, Arash Abiri, Jonathan C. Pang, Khodayar Goshtasbi, Lauren Liu, John R. Craig, Peter Papagiannopoulos, Katie M. Phillips, Bobby A. Tajudeen, Nithin D. Adappa, James N. Palmer, Ahmad R. Sedaghat, Eric W. Wang, Vijay Anand, Pete S. Batra, Marvin Bergsneider, Manuel Bernal‐Sprekelsen, Benjamin S. Bleier, Paolo Cappabianca, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Luigi M. Cavallo, Marc A. Cohen, Iacopo Dallan, Jean Anderson Eloy, Ivan H. El‐Sayed, James J. Evans, Juan C. Fernandez‐Miranda, Marco Ferrari, Sebastien Froelich, Paul A. Gardner, Christos Georgalas, Stacey T. Gray, Ehab Y. Hanna, Richard J. Harvey, Sang Duk Hong, Peter H. Hwang, Daniel F. Kelly, Doo‐Sik Kong, Ming‐Ying Lan, John Y. K. Lee, Corinna G. Levine, James K. Liu, Davide Locatelli, Cem Meço, Erin L. McKean, Piero Nicolai, Gurston G. Nyquist, Kazuhiro Omura, Thibault Passeri, Zara M. Patel, Maria Peris Celda, Carlos Pinheiro Neto, Danny M. Prevedello, Mindy R. Rabinowitz, Shaan M. Raza, Pablo F. Recinos, Marc R. Rosen, Zoukaa B. Sargi, Rodney J. Schlosser, Theodore H. Schwartz, Raj Sindwani, Carl H. Snyderman, Aldo C. Stamm, Brian D. Thorp, Mario Turri‐Zanoni, Marilene B. Wang, Wei‐Hsin Wang, Ian J. Witterick, Tae‐Bin Won, Bradford A. Woodworth, Peter‐John Wormald, Gabriel Zada, Shirley Y. Su   +77 more
wiley   +1 more source

Age-related thinning of orbicularis oculi muscle inside upper eyelid and its possible association with sunken upper eyelids. [PDF]

Sci Rep
Gomi T, Okuda I, Seino A, Ohara K, Harada Y.   +4 more
europepmc   +1 more source

Synkinetic movements of the eyelid: a case with some unusual mechanisms of paradoxical lid retraction. [PDF]

, 1967
W G Bradley, K B Toone
openalex   +1 more source